Cystic fibrosis: characteristics and inheritance

What is cystic fibrosis?

Cystic fibrosis, also called mucus disease , is a congenital disorder that occurs inherited . The forms of this disease can be more or less severe, or more or less marked, hence it is possible to suffer from it for years without a diagnosis.

The main characteristic of the disease is the abnormally high production of thick fluid . And this creates a series of problematic side effects for the person's daily life. For it to manifest, they must inherit at least one defective gene from each parent. Therefore, if you only have one defective gene from one parent, it won't manifest.

The life expectancy of those suffering from this condition is substantially lower than average. However, it is quite common for many individuals to reach the age of 40, and in some cases, even 50. However, to achieve this goal, they must receive appropriate medical treatment regularly.

The early detection It's essential because it helps implement successful treatment as soon as possible. Newborns are usually tested with a blood test, but it can also be done in adolescents or adults, if necessary.

Symptoms of cystic fibrosis

The symptoms of cystic fibrosis vary depending on the severity of the condition, but also on the patient's age. Therefore, let's analyze the main problems separately; let's see:

1. Symptoms of childhood cystic fibrosis

This disease , in Babies have a series of symptoms that manifest in the early stages, especially in severe cases. These are:

• Respiratory problems: Unusual mucus production can cause various respiratory problems. For example, difficulty breathing or a recurring cough, which is common, or nasal congestion. Ultimately, this is, if anything, one of the easiest symptoms to detect in the short term.
• Digestive problems: A common problem is abdominal pain, difficulty defecating, or stools that appear mucus-filled, foul-smelling, or clay-colored, as well as diarrhea. Finally, there are more cases of rectal prolapse than usual.
• Growth retardation: This circumstance can only be seen after a few months, but it is also one of the symptoms associated with cystic fibrosis. Not surprisingly, there are difficulties in the absorption of nutrients. For this reason, it is preferable to do the heel prick test in newborns.
• Loss of appetite: A problem that is sometimes difficult to detect is loss of appetite, which varies depending on the severity of the disease. This factor is undoubtedly related to other symptoms.
• Tendency to fatigue: A common symptom of this condition is a tendency toward fatigue. Not surprisingly, all the problems associated with fibrosis increase the tendency to fatigue. This is logical, since there are difficulties in properly absorbing nutrients.
• More likely to suffer from diseases: Some diseases, such as diabetes, are more common among people who suffer from this condition.

These symptoms can occur simultaneously in a child if all the factors come together.

2. Symptoms of the disease in adults

There are some symptoms of the disease that can be seen in adults or older people. These are the most common:

• Malformation of the fingers: The malformation of the fingers is usually clubbed and is easy to detect, especially in adolescents or adults. This is one of the most obvious long-term consequences.
• Inflammation: This disease increases the chances of suffering from certain inflammations in certain organs. First and foremost, and most importantly, in the lungs and bronchi. However, for example, cases of pancreatitis are much more common than those without this condition.
• Sterility: Fibrosis leads to increased infertility in males. Obviously, this condition must be diagnosed at least until adolescence, and it is not widespread, although the proportion of males with this problem is much higher than usual.
• Tendency to lose weight: Digestive problems and a lack of appetite lead to a tendency to lose weight. Precisely for this reason, early detection is advisable in order to apply treatment.

Medical treatment of this disease

Because it is a congenital disease, cystic fibrosis has no cure. However, unlike other conditions, it does have a medical treatment to improve the quality of life of patients. As follows:

• Use of Bronchodilators or mucolytics , to facilitate breathing, reduce mucus, and thus reduce breathing difficulties. This is one of the most common options from the early stages.
• Nasal and sinus surgery , in clear cases of respiratory obstruction. It should be evaluated, but this is one of the possibilities if bronchodilators or mucolytics don't work.
• Specific high-calorie diets . Since nutrient absorption is more difficult, attempts are made to compensate for this with high-calorie diets. However, these should always be supervised by a specialist to avoid other types of problems.
• Prescription of Nutritional supplements . It's common to prescribe vitamins or calories to compensate for a lack of appetite. In this case, and after determining the deficiency, the necessary supplements will be prescribed.
• Medications: The treatment of this disease sometimes involves taking certain prescribed and supervised medications. It is common to use CFTR gene modulators. This would reduce the problems associated with this condition and its symptoms.

RNA treatments are currently being researched to advance alternatives, but they are still in the development phase. It is hoped that therapeutic treatments will be perfected in the coming years. The good news is that life expectancy and quality of life have increased significantly.

In summary…

Cystic fibrosis, due to its complexity, is a complex disease with many symptoms, and it is advisable to diagnose it as soon as possible or to know the possibilities of suffering from it. Genotics You'll find a list of genetic tests that can also be compared. Learn how it works!